Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
UBE4B	10277	broad.mit.edu	37	1	10192468	10192468	+	Silent	SNP	C	C	G			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:10192468C>G	uc021ogc.1	+	15	2794	c.2106C>G	c.(2104-2106)ggC>ggG	p.G702G	UBE4B_uc001aqs.4_Silent_p.G651G|UBE4B_uc001aqr.4_Silent_p.G522G|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.G106G	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	651					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGTTAAATGGCGAAACCCGTG	0.373												
GRIK3	2899	broad.mit.edu	37	1	37307528	37307528	+	Missense_Mutation	SNP	C	C	T	rs114307108	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:37307528C>T	uc001caz.2	-	9	1474	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	GRIK3_uc001cba.1_Missense_Mutation_p.V447I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	447					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGAAACATGACGAAGGGCTCC	0.577												
HEATR8	374977	broad.mit.edu	37	1	55148429	55148429	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:55148429G>A	uc010ooe.1	+	13	2806	c.2482G>A	c.(2482-2484)Gtc>Atc	p.V828I	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.V396I|HEATR8_uc010ood.1_Missense_Mutation_p.V346I|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.V828I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.V30I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	828						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAGAAGCCCGTCACCAAGGA	0.622												
COL24A1	255631	broad.mit.edu	37	1	86340334	86340334	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:86340334G>A	uc001dlj.3	-	34	3211	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	COL24A1_uc001dli.3_Missense_Mutation_p.R182W|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R346W|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1046	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCACTCACCCGTAAACCTGGT	0.408												
CFH	10877	broad.mit.edu	37	1	196884116	196884116	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:196884116C>A	uc001gtp.3	+	8	1525	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H	CFH_uc021pgt.1_Missense_Mutation_p.P86H|CFH_uc009wyy.3_Missense_Mutation_p.P462H|CFH_uc001gto.3_Missense_Mutation_p.P216H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	816	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCTCCTCCACCTATTAGCAAT	0.378												
CENPF	1063	broad.mit.edu	37	1	214815836	214815836	+	Silent	SNP	C	C	T	rs139914723	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:214815836C>T	uc001hkm.3	+	11	4329	c.4155C>T	c.(4153-4155)gaC>gaT	p.D1385D		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1482					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCCATTGGACGAGAGTAATT	0.423												
RBP3	5949	broad.mit.edu	37	10	48389546	48389546	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:48389546G>A	uc001jez.3	-	0	1446	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	444	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.F444F(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAAAACTATCGAAGCGCAGGT	0.617												
PTEN	5728	broad.mit.edu	37	10	89711988	89711989	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:89711988_89711989delTA	uc001kfb.3	+	5	1638_1639	c.606_607delTA	c.(604-609)actattfs	p.T202fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	202	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.I203fs*39(2)|p.Y27fs*1(2)|p.I203fs*18(2)|p.Y27_N212>Y(2)|p.T202I(1)|p.T202fs*19(1)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTTGAAACTATTCCAATGTT	0.371		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
CTBP2	1488	broad.mit.edu	37	10	126691658	126691658	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:126691658C>T	uc009yak.3	-	4	516	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	CTBP2_uc009yal.3_Missense_Mutation_p.V77M|CTBP2_uc001lif.4_Missense_Mutation_p.V77M|CTBP2_uc001lih.4_Missense_Mutation_p.V77M|CTBP2_uc001lid.4_Missense_Mutation_p.V145M|CTBP2_uc001lie.4_Missense_Mutation_p.V617M	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	77					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATGGCGCCCACGGCTTCGTTT	0.627												
OR5M9	390162	broad.mit.edu	37	11	56230656	56230656	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr11:56230656G>A	uc010rjj.2	-	0	222	c.222C>T	c.(220-222)aaC>aaT	p.N74N	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGGGGGTAACGTTGGAGGAGA	0.438												
B4GALNT3	283358	broad.mit.edu	37	12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:657400C>T	uc001qii.1	+	8	790	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	264						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582												
AK096395	1108	broad.mit.edu	37	12	6691851	6691851	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:6691851G>A	uc001qpq.1	+	1	142	c.54G>A	c.(52-54)tgG>tgA	p.W18*	CHD4_uc001qpn.3_Missense_Mutation_p.P1427S|CHD4_uc001qpo.3_Missense_Mutation_p.P1434S|CHD4_uc001qpp.3_Missense_Mutation_p.P1459S|SCARNA11_uc001qpr.1_5'Flank					Homo sapiens cDNA FLJ39076 fis, clone NT2RP7017567.																		TCCTGAGGTGGCATACCATAT	0.473												
PIK3C2G	5288	broad.mit.edu	37	12	18716419	18716419	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:18716419C>T	uc001rdt.3	+	26	3882	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1297L|PIK3C2G_uc010sic.2_Silent_p.L1075L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1256	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTTTGCATCACTGACTCTCCC	0.398												
PDE3A	5139	broad.mit.edu	37	12	20522696	20522696	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:20522696G>A	uc001reh.2	+	0	518	c.478G>A	c.(478-480)Gct>Act	p.A160T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	160					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCTGCCTCTGGCTGTCGCGCT	0.701												
C12orf12	196477	broad.mit.edu	37	12	91348191	91348191	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:91348191C>T	uc001tbj.3	-	0	763	c.329G>A	c.(328-330)cGg>cAg	p.R110Q		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	110										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GCCATACACCCGAAACACTTG	0.647												
BTBD11	121551	broad.mit.edu	37	12	108013833	108013833	+	Silent	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:108013833C>A	uc001tmk.1	+	10	3044	c.2523C>A	c.(2521-2523)ctC>ctA	p.L841L	BTBD11_uc009zut.1_Silent_p.L722L|BTBD11_uc001tmj.3_Silent_p.L841L|BTBD11_uc001tml.1_Silent_p.L378L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	841						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAGGCCTCTCATCCAGTGCT	0.582												
FAM48A	55578	broad.mit.edu	37	13	37607599	37607599	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr13:37607599G>A	uc001uwk.3	-	9	942	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	FAM48A_uc010abt.3_Missense_Mutation_p.R233C|FAM48A_uc001uwg.3_Missense_Mutation_p.R232C|FAM48A_uc001uwh.3_Missense_Mutation_p.R233C|FAM48A_uc001uwi.3_Missense_Mutation_p.R232C|FAM48A_uc001uwj.3_Missense_Mutation_p.R233C|FAM48A_uc010tes.1_Missense_Mutation_p.R220C|FAM48A_uc001uwl.1_Missense_Mutation_p.R232C	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	232					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TTCATTGGGCGAGTGTTCATC	0.428												
NEDD8-MDP1	145553	broad.mit.edu	37	14	24683351	24683351	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:24683351G>A	uc001wnl.2	-	5	525	c.410C>T	c.(409-411)aCc>aTc	p.T137I	TM9SF1_uc010tob.1_5'UTR|TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_5'UTR|TM9SF1_uc001wnj.3_5'UTR|NEDD8-MDP1_uc001wnk.2_3'UTR|NEDD8-MDP1_uc021rrl.1_3'UTR|NEDD8-MDP1_uc001wnm.2_Silent_p.Y90Y|NEDD8-MDP1_uc021rrm.1_Missense_Mutation_p.T154I	NM_138476	NP_612485			Homo sapiens magnesium-dependent phosphatase 1 (MDP1), transcript variant 1, mRNA.																		GTGAATGCAGGTAACACCTAG	0.433												
RBM25	58517	broad.mit.edu	37	14	73578261	73578261	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:73578261T>C	uc010ttu.2	+	16	2319	c.2043T>C	c.(2041-2043)ccT>ccC	p.P681P	RBM25_uc001xno.3_Silent_p.P681P|RBM25_uc001xnp.3_Silent_p.P476P	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	681					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGGTCAGCCTAATTCTGTGA	0.388												
EML5	161436	broad.mit.edu	37	14	89084607	89084607	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:89084607G>A	uc021ryf.1	-	39	5856	c.5607C>T	c.(5605-5607)gcC>gcT	p.A1869A	EML5_uc001xxf.3_Silent_p.A656A|EML5_uc021ryg.1_Silent_p.A1869A|EML5_uc001xxd.3_Silent_p.A34A|EML5_uc001xxe.3_Silent_p.A218A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1861						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTCAATAGCGGCATGATCCA	0.378												
SERPINA1	5265	broad.mit.edu	37	14	94847444	94847444	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:94847444G>A	uc001ycy.4	-	4	1235	c.681C>T	c.(679-681)acC>acT	p.T227T	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.T227T|SERPINA1_uc010auy.3_Silent_p.T227T|SERPINA1_uc001ycz.4_Silent_p.T227T|SERPINA1_uc010auz.3_Silent_p.T227T|SERPINA1_uc010ava.3_Silent_p.T227T|SERPINA1_uc001ydb.4_Silent_p.T227T|SERPINA1_uc010avb.3_Silent_p.T227T|SERPINA1_uc001ydc.4_Silent_p.T227T|SERPINA1_uc010auw.3_Silent_p.T227T|SERPINA1_uc010aux.3_Silent_p.T227T|SERPINA1_uc001yda.1_Silent_p.T227T	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	227					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CCTCTTCCTCGGTGTCCTTGA	0.517												
HHIPL1	84439	broad.mit.edu	37	14	100118715	100118715	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:100118715C>T	uc010avs.3	+	1	475	c.410C>T	c.(409-411)gCg>gTg	p.A137V	HHIPL1_uc001ygl.1_Missense_Mutation_p.A137V	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	137					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGCTCTGGGCGCTGGAGGGC	0.602												
EIF2AK4	440275	broad.mit.edu	37	15	40247830	40247830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:40247830G>T	uc001zkm.1	+	5	654	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EIF2AK4_uc001zkl.3_Nonsense_Mutation_p.E202*|EIF2AK4_uc010bbj.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	202					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GGAACGTTTGGAAATTGCTAG	0.378												
SPTBN5	51332	broad.mit.edu	37	15	42167085	42167085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:42167085G>A	uc001zos.3	-	22	4685	c.4352C>T	c.(4351-4353)gCc>gTc	p.A1451V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1486					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGGGAGGCGGCCATGCCATG	0.632												
PIAS1	8554	broad.mit.edu	37	15	68468841	68468841	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:68468841G>T	uc002aqz.3	+	10	1423	c.1330G>T	c.(1330-1332)Gta>Tta	p.V444L		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	444					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGAGCATCAGGTAGCGTCTCA	0.423												
GDPGP1	390637	broad.mit.edu	37	15	90784827	90784827	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:90784827C>T	uc002bpc.3	+	3	866	c.687C>T	c.(685-687)ccC>ccT	p.P229P	GDPGP1_uc021suh.1_Silent_p.P229P	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	229					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										ACAGACTGCCCGTGGAGCAGG	0.637												
CDYL2	124359	broad.mit.edu	37	16	80718568	80718568	+	Silent	SNP	G	G	A	rs149557557		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr16:80718568G>A	uc002ffs.3	-	1	588	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	161						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTCAGAGCCGGCGTCCCCAT	0.512												
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
ABCA10	10349	broad.mit.edu	37	17	67148603	67148603	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:67148603C>T	uc010dfa.1	-	35	5035	c.4156G>A	c.(4156-4158)Gtt>Att	p.V1386I	ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.V378I|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1386	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGTTTTTAACGGTAGCCTGA	0.423												
MYOM1	8736	broad.mit.edu	37	18	3134669	3134669	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:3134669T>C	uc002klp.3	-	15	2697	c.2363A>G	c.(2362-2364)aAc>aGc	p.N788S	MYOM1_uc002klq.3_Missense_Mutation_p.N788S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	788	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACGGGGTTGTTGTTACAGGG	0.577												
CDH7	1005	broad.mit.edu	37	18	63477003	63477003	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:63477003A>G	uc002lkb.3	+	2	700	c.274A>G	c.(274-276)Agt>Ggt	p.S92G	CDH7_uc002ljz.3_Missense_Mutation_p.S92G|CDH7_uc002lka.3_Missense_Mutation_p.S92G	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAAGGGGCAAGTTCCATTTT	0.448												
REXO1	57455	broad.mit.edu	37	19	1816329	1816329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:1816329C>T	uc002lua.4	-	14	3567	c.3472G>A	c.(3472-3474)Gtg>Atg	p.V1158M	REXO1_uc010dsq.3_Missense_Mutation_p.V467M|REXO1_uc010xgs.1_Missense_Mutation_p.V144M|REXO1_uc021umm.1_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	1158	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCCACCACGGTGCTGTGG	0.682												
OR2Z1	284383	broad.mit.edu	37	19	8841802	8841802	+	Missense_Mutation	SNP	C	C	T	rs58741481	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:8841802C>T	uc010xkg.2	+	0	412	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	138			R -> C (in dbSNP:rs58741481).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTATGAGACGCCAGGTATG	0.557												
SARS2	54938	broad.mit.edu	37	19	39408375	39408375	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:39408375G>A	uc010xup.1	-	12	1315	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	SARS2_uc002ojz.2_Silent_p.G193G|SARS2_uc002oka.2_Silent_p.G383G|SARS2_uc010xuq.1_Silent_p.G383G|SARS2_uc010xur.1_Non-coding_Transcript	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	383					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGAAGTGCAAGCCCAGCTCTG	0.627												
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:45911859_45911861delGAA	uc002pbr.1	+	2	645_647	c.639_641delGAA	c.(637-642)cggaag>cgg	p.K219del	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	217					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581												
IL4I1	259307	broad.mit.edu	37	19	50397588	50397588	+	Silent	SNP	G	G	A	rs145616852	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:50397588G>A	uc002pqv.2	-	7	1360	c.531C>T	c.(529-531)taC>taT	p.Y177Y	IL4I1_uc002pqt.1_Silent_p.Y168Y|IL4I1_uc021uxy.1_Silent_p.Y190Y|IL4I1_uc002pqu.2_Silent_p.Y190Y|IL4I1_uc010eno.2_Silent_p.Y176Y	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	168						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GACGCAAGGCGTAGCCCAGCT	0.602												
ZNF667	63934	broad.mit.edu	37	19	56953533	56953533	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:56953533T>C	uc002qne.3	-	6	1622	c.831A>G	c.(829-831)ggA>ggG	p.G277G	ZNF667_uc010etl.3_Silent_p.G59G|ZNF667_uc002qnd.3_Silent_p.G277G|ZNF667_uc010etm.3_Silent_p.G220G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTGTTTTCTTTCCATTGTGAA	0.348												
ZNF134	7693	broad.mit.edu	37	19	58131796	58131796	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:58131796G>A	uc002qpn.2	+	2	408	c.309G>A	c.(307-309)gaG>gaA	p.E103E	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	103						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACAGTATAGAGCAACCCTTAA	0.458												
GKN1	56287	broad.mit.edu	37	2	69207121	69207121	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:69207121T>A	uc002sfc.3	+	4	497	c.434T>A	c.(433-435)cTg>cAg	p.L145Q		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	145	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GTCGATGACCTGAGCAAGTTC	0.502												
FAM123C	205147	broad.mit.edu	37	2	131520943	131520943	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:131520943C>A	uc021voy.1	+	0	1298	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	FAM123C_uc002trw.2_Missense_Mutation_p.P433H|FAM123C_uc010fmv.2_Missense_Mutation_p.P433H|FAM123C_uc010fms.1_Missense_Mutation_p.P433H|FAM123C_uc010fmt.1_Missense_Mutation_p.P433H|FAM123C_uc010fmu.1_Missense_Mutation_p.P433H	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	433										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGCGAGGGTCCTCTTGGCCCC	0.657												
BPIFA3	128861	broad.mit.edu	37	20	31814297	31814297	+	Splice_Site	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr20:31814297G>T	uc002wyr.3	+	5	829	c.621_splice	c.e5+1	p.Q207_splice	BPIFA3_uc002wys.3_Splice_Site_p.Q171_splice	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	207						extracellular region	lipid binding										AGAAAGTCAGGTAAGTTTAGA	0.393												
PTPRT	11122	broad.mit.edu	37	20	41306674	41306674	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr20:41306674T>C	uc002xkg.3	-	6	1169	c.985A>G	c.(985-987)Acc>Gcc	p.T329A	PTPRT_uc010ggj.3_Missense_Mutation_p.T329A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	329	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R328C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGTGGTGGTGCGATATTCC	0.557												
OLIG2	10215	broad.mit.edu	37	21	34399532	34399532	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:34399532T>A	uc002yqx.2	+	1	543	c.362T>A	c.(361-363)aTg>aAg	p.M121K	OLIG2_uc021wil.1_Missense_Mutation_p.M121K	NM_005806	NP_005797	Q13516	OLIG2_HUMAN	Homo sapiens oligodendrocyte lineage transcription factor 2 (OLIG2), mRNA.	121	Helix-loop-helix motif.					cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						CGCAAGCGCATGCACGACCTC	0.622			T	TRA@	T-ALL							
COL6A2	1292	broad.mit.edu	37	21	47544566	47544566	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:47544566C>T	uc002zia.1	+	22	1754	c.1672_splice	c.e22-1	p.A558_splice	COL6A2_uc002zhz.1_Splice_Site_p.A558_splice|COL6A2_uc002zhy.1_Splice_Site_p.A558_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	558	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.A558V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTTCTCAGGCGGATCCTGGT	0.672												
RIMBP3B	150221	broad.mit.edu	37	22	21742628	21742629	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr22:21742628_21742629insC	uc002zuq.4	+	0	4966_4967	c.4481_4482insC	c.(4480-4482)gacfs	p.D1494fs	RN7SK_uc021wmf.1_5'Flank	NM_001128635	NP_001122107			Homo sapiens RIMS binding protein 3B (RIMBP3B), mRNA.																		GGCTCTCAGGACACCCATGATT	0.559												
LRIG1	26018	broad.mit.edu	37	3	66449417	66449417	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr3:66449417C>T	uc003dmx.3	-	9	1223	c.1209G>A	c.(1207-1209)tcG>tcA	p.S403S	LRIG1_uc011bfu.2_Silent_p.S23S|LRIG1_uc003dmw.3_Silent_p.S69S|LRIG1_uc010hnz.3_Intron|LRIG1_uc010hoa.3_Silent_p.S427S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	403						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTCCAGCCCCGAGAATGCTC	0.522												
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr3:169896635_169896637delTGG	uc003fgl.2	-	1	138_140	c.104_106delCCA	c.(103-108)accatc>atc	p.T35del	PHC3_uc010hws.1_In_Frame_Del_p.T23del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_Non-coding_Transcript	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	23					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493												
FGFR3	2261	broad.mit.edu	37	4	1808950	1808951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:1808950_1808951insC	uc003gdr.3	+	17	2638_2639	c.2382_2383insC	c.(2380-2385)ctgcccfs	p.L794fs	FGFR3_uc003gdu.2_Frame_Shift_Ins_p.L796fs|FGFR3_uc003gds.3_Frame_Shift_Ins_p.L682fs|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.A772fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	794					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.P795fs*139(2)|p.L794fs*23(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACGACCTGCTGCCCCCGGCCCC	0.688		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome			
DRD5	1816	broad.mit.edu	37	4	9784011	9784011	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:9784011G>A	uc003gmb.4	+	0	754	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	120					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGTGGCCTTCGACATCATGTG	0.617												
KIT	3815	broad.mit.edu	37	4	55561758	55561758	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:55561758G>A	uc010igr.3	+	1	235	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	KIT_uc010igs.3_Missense_Mutation_p.V50M	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	50	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.V50M(4)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATAGTCCGCGTGGGCGACGA	0.468		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors			
SLC4A4	8671	broad.mit.edu	37	4	72338689	72338689	+	Splice_Site	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:72338689T>C	uc010iic.3	+	14	2020	c.1903_splice	c.e14+2	p.A635_splice	SLC4A4_uc003hfy.3_Splice_Site_p.A635_splice|SLC4A4_uc010iib.3_Splice_Site_p.A635_splice|SLC4A4_uc003hfz.3_Splice_Site_p.A635_splice|SLC4A4_uc003hgc.4_Splice_Site_p.A591_splice|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Silent_p.G513G|SLC4A4_uc003hgb.3_Silent_p.G591G	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	635						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTGACCCAGGTGAGGGCATTA	0.463												
NUDT9	53343	broad.mit.edu	37	4	88362984	88362984	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:88362984T>C	uc003hqq.3	+	3	777	c.447T>C	c.(445-447)aaT>aaC	p.N149N	NUDT9_uc010ikl.3_Silent_p.N117N|NUDT9_uc003hqr.3_Silent_p.N99N	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTTCCAGAAATCCTGCAGGAC	0.418												
PRDM9	56979	broad.mit.edu	37	5	23524499	23524499	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:23524499A>T	uc003jgo.3	+	9	1189	c.1007A>T	c.(1006-1008)cAc>cTc	p.H336L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	336	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTCCAGTACCACAGGCAGATC	0.537										HNSCC(3;0.000094)		
CDH9	1007	broad.mit.edu	37	5	26906907	26906907	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:26906907G>A	uc003jgs.1	-	3	733	c.564C>T	c.(562-564)gaC>gaT	p.D188D	CDH9_uc010iug.3_Silent_p.D188D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGTTGGCGTCATCTGCAT	0.403												
FBN2	2201	broad.mit.edu	37	5	127712445	127712445	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:127712445G>C	uc003kuu.3	-	13	2390	c.1951C>G	c.(1951-1953)Cca>Gca	p.P651A	FBN2_uc003kuv.2_Missense_Mutation_p.P618A	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	651	EGF-like 9; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCCCATTTGGAGCCAAGACA	0.398												
PCDHB11	56125	broad.mit.edu	37	5	140580521	140580521	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:140580521G>A	uc003liy.3	+	0	1174	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	392	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V392M(2)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCCATTCGTGCTAAAATC	0.453												
PRSS16	10279	broad.mit.edu	37	6	27219612	27219612	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:27219612G>A	uc003nja.3	+	7	816	c.801G>A	c.(799-801)acG>acA	p.T267T	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	267					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATTGCGGACGGAGCTGAGCG	0.697												
PIM1	5292	broad.mit.edu	37	6	37138555	37138557	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:37138555_37138557delAGA	uc003onk.3	+	1	519_521	c.89_91delAGA	c.(88-93)gagaag>gag	p.K31del	PIM1_uc011dtw.2_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	122					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CTAGGCAAGGAGAAGGAGCCCCT	0.714			T	BCL6	NHL							
KCNK5	8645	broad.mit.edu	37	6	39162433	39162433	+	Silent	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:39162433G>T	uc003oon.3	-	2	766	c.402C>A	c.(400-402)ggC>ggA	p.G134G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	134					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGAAGAACTTGCCCAGGGCAC	0.597												
HTR1E	3354	broad.mit.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:87725488G>A	uc003pli.3	+	1	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	HTR1E_uc021zcg.1_Missense_Mutation_p.V146I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	146					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.V146I(4)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCCTTACCGTCTGGACCAT	0.582												
PTPRK	5796	broad.mit.edu	37	6	128319982	128319982	+	Silent	SNP	C	C	T	rs141454620	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:128319982C>T	uc003qbk.3	-	15	2926	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G	PTPRK_uc010kfc.3_Silent_p.G854G|PTPRK_uc003qbj.3_Silent_p.G854G|PTPRK_uc011ebu.2_Silent_p.G870G|PTPRK_uc010kfd.1_Silent_p.G79G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	853					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGATTCCGTCCCCTCACAGA	0.478												
SKAP2	8935	broad.mit.edu	37	7	26766511	26766511	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:26766511C>T	uc003syc.3	-	6	877	c.584G>A	c.(583-585)cGt>cAt	p.R195H	SKAP2_uc011jzi.2_Missense_Mutation_p.R23H|SKAP2_uc011jzj.2_Missense_Mutation_p.R180H	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	195	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.R195H(2)|p.R195G(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CTGATATATACGTTTATCAGG	0.303												
NME8	51314	broad.mit.edu	37	7	37901681	37901682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:37901681_37901682insC	uc003tfn.3	+	6	694_695	c.322_323insC	c.(322-324)aaafs	p.K108fs		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	108	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GCTTGTTAATAAAAAAGTTATT	0.376												
GRB10	2887	broad.mit.edu	37	7	50660761	50660761	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:50660761T>C	uc003tpi.2	-	15	1719	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	GRB10_uc003tph.3_Missense_Mutation_p.D500G|GRB10_uc003tpj.2_Missense_Mutation_p.D512G|GRB10_uc003tpk.2_Missense_Mutation_p.D558G|GRB10_uc010kzb.2_Missense_Mutation_p.D500G|GRB10_uc003tpl.2_Missense_Mutation_p.D552G|GRB10_uc003tpm.2_Missense_Mutation_p.D500G	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	558	SH2.		D -> H (in dbSNP:rs11768472).		insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GTTCCCGTCATCTAGGCTGAA	0.547									Russell-Silver syndrome			
PCLO	27445	broad.mit.edu	37	7	82544904	82544904	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:82544904C>T	uc003uhx.2	-	6	12687	c.12398G>A	c.(12397-12399)cGt>cAt	p.R4133H	PCLO_uc003uhv.2_Missense_Mutation_p.R4133H|PCLO_uc010lec.3_Missense_Mutation_p.R1098H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCCCTCTACGAAATTCCTG	0.408												
ABCB4	5244	broad.mit.edu	37	7	87083895	87083895	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:87083895C>T	uc003uiv.1	-	4	376	c.300G>A	c.(298-300)ttG>ttA	p.L100L	ABCB4_uc003uiw.1_Silent_p.L100L|ABCB4_uc003uix.1_Silent_p.L100L|ABCB4_uc003uiy.3_Silent_p.L100L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	100	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTAGCAGCGACAAGGAAAAGT	0.259												
RELN	5649	broad.mit.edu	37	7	103137114	103137114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:103137114G>A	uc022ajr.1	-	55	9212	c.9052C>T	c.(9052-9054)Cga>Tga	p.R3018*	RELN_uc022ajq.1_Nonsense_Mutation_p.R3018*|RELN_uc010liz.3_Nonsense_Mutation_p.R3018*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3018					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCGAAGTCGAGTTGTGTTG	0.478												
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome			
WDR86	349136	broad.mit.edu	37	7	151093239	151093239	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:151093239G>A	uc011kvk.1	-	2	798	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	WDR86_uc003wka.2_Missense_Mutation_p.R75W|WDR86_uc003wkb.2_Missense_Mutation_p.R117W|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	117										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGCTGTCCGGTCATAGGAG	0.627												
RIMS2	9699	broad.mit.edu	37	8	104709403	104709403	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr8:104709403C>T	uc003ylp.3	+	1	405	c.266C>T	c.(265-267)gCg>gTg	p.A89V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	120	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGGGTGATGCGCCAACCTGT	0.438										HNSCC(12;0.0054)		
PRSS3	5646	broad.mit.edu	37	9	33798043	33798043	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:33798043C>T	uc003ztj.4	+	2	639	c.588C>T	c.(586-588)tgC>tgT	p.C196C	PRSS3_uc003zti.4_Silent_p.C153C|PRSS3_uc022bfu.1_Silent_p.C132C|PRSS3_uc003ztl.4_Silent_p.C139C	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	196	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCACTGAGTGCCTCATCTCCG	0.567												
WNK2	65268	broad.mit.edu	37	9	96080166	96080166	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:96080166G>A	uc004ati.1	+	29	6751	c.6751G>A	c.(6751-6753)Gga>Aga	p.G2251R	WNK2_uc011lud.1_Intron|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2251					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGCGCCCTCGGAACCGCCCG	0.687												
SLC46A2	57864	broad.mit.edu	37	9	115652489	115652489	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:115652489G>A	uc004bgk.3	-	0	705	c.473C>T	c.(472-474)gCg>gTg	p.A158V		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	158						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGATCCCAGCGCCATGACCCC	0.682												
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:125316158G>A	uc011lyx.2	+	0	710	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517												
COL5A1	1289	broad.mit.edu	37	9	137622156	137622156	+	Silent	SNP	C	C	T	rs138702819	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:137622156C>T	uc004cfe.3	+	6	1381	c.999C>T	c.(997-999)gtC>gtT	p.V333V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	333	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGAGGACGTCGGCATCGGGG	0.622												
MXRA5	25878	broad.mit.edu	37	X	3229308	3229308	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:3229308G>A	uc004crg.4	-	6	7093	c.6936C>T	c.(6934-6936)aaC>aaT	p.N2312N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2312	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCACTTCGTTAAAGTAGA	0.547												
TLR8	51311	broad.mit.edu	37	X	12939911	12939911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:12939911G>A	uc004cvd.3	+	2	2976	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.E918K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	918	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCTTTGTCTAGAGGAGAGGGA	0.443												
OTUD6A	139562	broad.mit.edu	37	X	69282717	69282717	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:69282717G>C	uc004dxu.1	+	0	377	c.343G>C	c.(343-345)Gct>Cct	p.A115P		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	115										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CATCTTCCAGGCTGAGATGTC	0.617												
CXorf57	55086	broad.mit.edu	37	X	105855511	105855511	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:105855511G>A	uc004emi.4	+	0	352	c.201G>A	c.(199-201)gtG>gtA	p.V67V	CXorf57_uc004emj.4_Silent_p.V67V|CXorf57_uc004emh.2_Silent_p.V67V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	67										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CGGAGGTGGTGCCTGTAACTG	0.572												
PCDH11Y	83259	broad.mit.edu	37	Y	4967730	4967730	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrY:4967730delT	uc004fqo.3	+	1	2845	c.2111delT	c.(2110-2112)gttfs	p.V704fs	PCDH11Y_uc010nwg.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fql.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqm.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqn.1_Frame_Shift_Del_p.V704fs|PCDH11Y_uc004fqp.1_Frame_Shift_Del_p.V475fs	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	704	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACAAACCAGTTTTCATTGTC	0.403